19 May 2015 print
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INCa publishes report on the French National Networks for Rare Cancers in Adults

The French National Cancer Institute (INCa) in association with the French Directorate-General for Care Provision (DGOS), has been entrusted with organising care for adult patients with rare cancers, thus completing the arrangement of reference centres and centres of competence for rare diseases established by the French National Plan for Rare Diseases. In 2014, the 19 networks structured in 2009 and 2010 were invited to apply for INCa designation, a recognition of excellence following 4-5 years of activity.This report monitors the specific organisation for rare cancers in adults in 2014, when the networks structured in 2009 and 2010 were designated. The report identified the achievements and shortcomings of this organisation as well as envisions the challenges that lay ahead for this organisation. The report is meant to serve as a basis for evaluating developments in these fields at the end of the Third Cancer Plan (2014-2019).

The key figures documented by the report include
“ - 18 of 19 candidate networks designated by INCa in 2014 (14 national clinical networks and 4 national anatomopathology networks for rare cancers in adults)
- Over 12,800 patients with a rare cancer benefited from expert care from the time of diagnosis in 2013
- The coverage rate for all networks combined was 75% in 2013
- Over 8,300 patient files were discussed at multidisciplinary consultative meetings (RCP) during initial care
- 7,800 tumour specimens for sarcomas, rare malignant neuroendocrine tumours, malignant mesotheliomas and rare peritoneal tumours were reread in dedicated anatomopathology networks
- Over 8,800 cases of lymphoma were reread in the dedicated network
- 138 clinical trials involved rare cancers in 2013
- 56 clinical trials related specifically to a rare cancer rare were opened for enrolment in 2013, and recorded in the French Registry for Clinical Trials in Oncology
- 1,300 patients with a rare cancer were enrolled in a clinical trial in 2013
- 12 projects related to rare cancers were supported and funded by INCa in 2013
- Over 28,500 cases were recorded in the national databases established in 17 of the 23 clinical networks
- 9,160 cases of lymphoma were recorded in the LYMPHOPATH database in 2013
- 17 websites are specifically devoted to rare cancers
- 26 patient associations are involved in the specific organisation for rare cancers”

These results are feeding the discussion on a possible future European Reference Network for rare cancers.
See the dedicated section on the website e-cancer.fr

EU Policy News

Scientific advice leads to stronger applications from industry
The European Medicines Agency (EMA) has recently reported that the importance of adhering to "EMA scientific advice on trial design results in higher success rates, shorter overall assessment time and fewer major objections during assessment".

During the development of medicines, companies can avail scientific advice from the EMA for advice on designing scientifically sound trials and generate adequate data for the benefit risk assessment by EMA’s Committee for Medicinal Products for Human Use (CHMP). This service if offered by the EMA through its Scientific Advice Working Party (SAWP). The EMA and its SAWP performed an analysis of marketing authorisation application outcomes between 2008 and 2012 (published in Nature Reviews Drug Discovery) where they found that the "majority of clinical development plans submitted for scientific advice to the EMA prior to a marketing authorisation application were found not suitable for future benefit risk assessment. Companies that changed their clinical development plans in accordance with the recommendation from EMA were more likely to be granted a marketing authorisation'.

Detailed analysis of marketing authorisation applications received by the EMA that had an opinion between 2008 and 2012 can be found in the EMA website in the report entitled Impact of scientific advice from the European Medicines Agency.

The EMA reiterate that scientific advice should be sought early during medicine development as it offers an opportunity to initiate a scientific dialogue on all aspects of its development and it will ensure that appropriate changes can be implemented where necessary.

EMA publishes its 2014 annual report
The annual report published by the European Medicines Agency (EMA) this year focuses on the Agency’s key priorities which included the evaluation of medicines and the support to research and development of new and innovative medicines. According to the report the Agency recommended 82 new medicines for marketing authorisation for human use in 2014. Interestingly the EMA also reported that "the number of applications for orphan designation increased by 63% and requests for scientific advice for human medicines by 16% compared to 2013", demonstrating that sponsors are utilizing the resources provided by the EMA to bring safe and effective medicines to the market in a timely fashion.

The annual report also highlights some of the main projects, initiatives and achievements in 2014 such as the adoption of EMA’s policy on the publication of clinical data; the launch of a pilot project on adaptive pathways; the involvement of patients in the discussions on benefits and risks of medicines assessed by the Committee for Medicinal Products for Human Use (CHMP); as well as the implementation of various new pieces of legislation. These initiatives will bring greater transparency as well as access to better medicines to patients quickly.
Read the Annual Report


National & International Policy Developments
United States debates giving Medicare power to negotiate drug prices with pharmaceutical
The President of the United States Barack Obama unveiled the Precision Medicine Initiative which earmarks USD 215 million towards exploring the molecular and genetic basis for disease with a national research cohort of a million or more volunteers. This initiative has many scientists excited as the success of this initiative would mean new diagnostic tests and treatments but can also mean that these innovative medications will charge top dollar, which patients often have to pay out of pocket. To ensure access and affordability of these treatments, the President wants to include a provision in the Affordable Care Act where Medicare – the social insurance program in the U.S – will be able to negotiate prices for biotechnology treatments and other high cost drugs with the pharmaceutical companies. Until now, negotiating with pharmaceutical companies was forbidden in the U.S as many law makers believe that the prices should be controlled by market forces and not by the government. However, the tide may be changing with many Americans are voicing their concern about the affordability of drugs.
Read the NY times article on this topic
Access Reuters for information on this topic

Protection of Personal Information Act of Japan lacking in human genome data protection
A review published in the Journal of Human Genetics comments on Japan’s Protection of Personal Information (PPI) Act mandated in 2003 which is currently being amended. According to the authors, this amendment was aimed “to stimulate the discussion for multidisciplinary utilisation of such personal data to create and promote economic innovations in Japan.” The general outlines of this amendment was open for public comment until 24 July, 2014. However, the resultant amendment regretfully barely touched upon the issue of human genome data, which the authors believe was because this issue was raised by very few involved in amendment process and "it was not considered to fit into any of the categories of ‘personal information’, including a new category created by the governmental committee.

The authors stress that this is a major oversight as Japan’s current regulations on the management of genome data are based on government guidelines and not laws. The author has stressed on the importance of Japan to have an internationally recognised data protection standards to ensure that Japanese data are not misused as well as encourage appropriate use of foreign data within Japan. Although the public comment period for the current amendment has ended the author recommends immediate actions from academic and industrial organisations to support genome data protection.
Access the article through the Nature website

Other European news
An integrated platform for neuromuscular diseases in Serbia
An integrated platform for neuromuscular diseases in Serbia, the Serbian Neuromuscular Disease Network, NMD-SerbNet, was officially launched on 1 November 2014 during SERBORDISinn and the 2014 GoldenHelix Symposium "Genomics of Rare Diseases" held in Belgrade, Serbia. The main goal of NMD-SerbNet is to improve diagnosis, research and therapy of neuromuscular disorders in Serbia through the synchronization of activities and systematic connection of detailed clinical and genetic information, biomaterial availability and research datasets related to Serbian patients. By increasing the number of neuromuscular diseases fully diagnosed in Serbia, engaging with other Serbian clinicians and researchers, and strengthening the links with patient organisations NMD-SerbNet will ultimately bring benefit to patients suffering from these disabling diseases. Adult and paediatric clinicians and basic science researchers from several institutions have joined forces to collaborate in the network including. More information related to the NMD-SerbNet, Serbian patient registries, available genetic tests and biomaterial, and ongoing research activities can be obtained by contacting SnezanaKojic at snezanakojic@imgge.bg.ac.rs whilst the network website is under construction.

Mitochondrial replacement therapy the discussion ahead
An opinion piece published in EMBO reports discusses the significance of the progress made in mitochondrial replacement therapy in the wake of the recent legislation in the UK to grant licences to clinics to carry out this therapy. The authors note that this new technique has undergone public and scientific debate of great magnitude with some opposed to furthering these techniques on either ethical or scientific grounds. However, the authors believe that “it is really important to remember why these techniques are being proposed and that ultimately we do hope that women with mtDNA disease will be able to make reproductive choices that include the possibility that their own offspring is free from disease”.
Read the open access article

Risks inherent to mitochondrial replacement
Another article published in the same issue tries to provide a better understanding of the science of mitochondrial therapy as the authors believe that some of it might have been misunderstood or not given adequate consideration. They offer arguments for the best way forward to ensure that this therapy can safely deliver the health benefits it promises for those suffering from mitochondrial-related diseases. According to the authors, it is fundamentally important to know that "mitochondrial and nuclear allelic combinations created following MR (which are characterized by 0% co-transmission from parents to offspring) are theoretically not equivalent to those found in individuals produced under sexual reproduction." The authors believe that it is a real possibility that novel combinations created under these conditions could result in mito-nuclear mismatches and points to a body of experimental evidence that indicates mito-nuclear interactions are important in determining health outcomes in humans and animals cattle. The authors note that since the only previous attempt of using pronuclear transfer in humans was not successful, much more work in needed to address to what extent the risk of mismatching can be reduced.

The authors have suggested a design where, "two oocytes should be used for every donor; each enucleated: one of these assigned to a control, and re-populated with the donor’s own nuclear genetic material, and the other to the mitochondrial replacement treatment. Comparing the success of mitochondrial replacement-treated to control eggs, and sufficient replication across donors would provide an explicit test for mito-nuclear incompatibilities post- mitochondrial replacement."
Access the article

Other International News
Role of government-funded special biomedical research programs to combat rare diseases in China
A review on the state of policies towards rare disease patients in China has been recently published in BioScience Trends. The authors estimate that over 10 million people were patients with rare disease in China, which has lead to greater public awareness due to the efforts of patient organisations, as well as non-stakeholders in China. However, the authors warn that features of missed or delayed diagnosis, shortage of effective drugs, and the high cost of currently available drugs for rare diseases make it an important public health issue and a challenge to medical care. The authors believe that in order to combat rare disease, "the government should assume the responsibility of taking on the important task of promoting the sustained development of a system of medical care for and research into rare diseases." The author believes that the government-funded research programs consisting led by outstanding clinicians and researchers to enhance basic and applied research on rare diseases, which are expected to be launched in China, will have a world of difference towards coping with rare diseases in China.
Read the PubMed abstract

Guidance Documents and Recommendations
Fabry disease: recommendations for initiation and cessation of enzyme replacement therapy
Consult the Pubmed abstract
To read more about "Fabry disease"

Orphanet J Rare Dis. ; 10(1):36 ; March 2015
Congenital muscular dystrophy: guidelines on evaluation, diagnosis and management
Consult the Pubmed abstract
To read more about "Congenital muscular dystrophy"

Neurology ; 84(13):1369-78 ; March 2015
Bioinformatics, Registries and Data Management
NORD collaborates with Foundation for Prader‑Willi Research to launch Global Prader‑Willi Syndrome Registry
The Foundation for Prader Willi Research (FPWR) and National Organization for Rare Disorders (NORD) launched the Global Prader Willi Syndrome Registry, to accelerate research and cures for the rare disease Prader Willi Syndrome (PWS). PWS is a rare genetic disorder that is recognised as the most common genetic cause of life threatening childhood obesity.

The Global PWS Registry aims to create a platform for patients around the world to share information about PWS with researchers on developmental history, medical complications, and quality of life, which will be anonymised. It will also help match participants with potential clinical trials, where participants will be notified of the opportunity to join in a clinical trial if matched appropriately. Research studies are reviewed and approved by registry's governing board that includes scientists, doctors and parent advocates.
FPWR has created a custom Facebook Profile Pic creator that will allow participants to promote the registry: http://www.fpwr.org/piccreator.
For more information, visit www.pwsregistry.org.

Scientists’ perspectives on consent in the context of biobanking research
An article published in the European Journal of Human Genetics presents the view of scientists on informed consent for individuals contributing to biobanks. The authors interviewed scientists and followed it by qualitative analysis to capture the diversity of perspectives on informed consent. They found that the majority of scientists reported their preference for a "general consent approach although they do not believe there to be a consensus on consent type, which is in contrast to some other studies demonstrating that most national- or state/provincial-level biobanks adopt a general or broad consent approach."

Despite their overall desire for a general consent model, many reported several concerns including donors needing some form of assurance that nothing unethical will be done with their samples and information and reported mixed opinions about "incorporating exclusion clauses in informed consent as a means of limiting some types of contentious research as a mechanism to assure donors that their samples and information are being handled appropriately."
Read Pubmed abstract

Anonymising and sharing individual patient data
A review published in BMJ tackles the issue of anonymisation of patient data to share it for secondary purposes, particularly for research. The authors emphasise the current need for anonymisation standards that can provide operational guidance to data custodians and promote consistency in the applications of anonymisation. This article describes the key concepts and principles for anonymising health data while ensuring it remain suitable for meaningful analysis. The authors believe that methods for measuring the risk of re-identification can be used to decide how much to anonymise health data for different types of data release. They note that although these methods cannot ensure that the risk of re-identification is zero, it is not the threshold that is expected by privacy laws and regulations in any jurisdiction for which there are strong precedents to choose suitable probability thresholds for anonymising data. Finally the authors state that organisations such as the European Medicines Agency could help address such gaps by "providing or recommending robust and scalable methods that can provide quantitative anonymity assurances while producing high quality data."
Read the Open Access article

Identification of a large set of rare complete human knockouts
deCODE Genetics, a U.S based company known for analysing and understanding the human genome, has recently published four papers in Nature Genetics, built on genomic data from Iceland from more than 100,000 people. One of these papers reports the frequency and utility of human gene knockouts, wherein they identified 1,171 knocked-out genes. Additionally they demonstrated that 7.7% of the 104,000 people studied have at least one gene knocked. The authors believe that the "examination of health and other traits in these individuals should provide a unique way to study directly the effect of specific genes on human biology and potentially contribute to the development of new drugs and diagnostics."
Read the PubMed abstract


Ethical, Legal & Social Issues
Rethinking expanded access to investigational drugs in the United States
An article published in The New England Journal of Medicine warns that the recent legislation efforts towards expanded access of drugs for compassionate use may be misguided. In the article the authors have described the regulation of expanded access in the United States and its current state of play as well as the considerations limiting expanded-access use, the legal challenges and the ethical issues surrounding this issue.

The authors believe that the best pathway to widespread access to experimental drugs is found by showing their efficacy and safety sufficiently to earn prompt FDA approval. They argue that one of the most straightforward means of addressing the issue of expanded access is to shorten the time between the determination that a new substance may be clinically useful and the point at which it becomes widely available. The authors emphasise that the current debate will need to take into account the simple concept that led to the regulatory authority of the FDA in the first place: that it may well not be in the interest of patients, however sick they may be, to have easier access to products that are ineffective and may actually worsen their clinical status.
Access the article through The New England Journal of Medicine website

Quality of life of patients with Hunter syndrome treated with idulsulfase
A retrospective study published in evaluated the Mucopolysaccharidosis II (MPS II) burden, organisation of clinical care, and effects of idursulfase treatment on the disease in France. MPS II patients who had received idursulfase ERT in the French healthcare system were enrolled who were administered several questionnaires to assess quality of life (QoL) and efficacy of the drug. The authors found MPS II adversely affects multiple domains of QoL for patients and families, requiring multiple healthcare services and social aid programs. The authors reported that the majority of patients experienced either improvement or stability in their symptoms during the first year of enzyme replacement therapy, but this was clearly less so for patients with the severe phenotype after the first year of treatment.
Read the Open Access article


New Syndromes

Autosomal-recessive disorder characterized by cerebellar hypoplasia, intellectual disability and dysmorphic features caused by biallelic missense mutations of BRF1
The authors described an autosomal recessive disorder characterised by cerebellar hypoplasia and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies. Whole-exome sequencing revealed biallelic missense alterations of BRF1 in three families.
Consult the Pubmed abstract

Genome Res. ; 25(2):155-66 ; February 2015
Novel developmental syndrome named CHOPS syndrome due to AFF4 missense mutations
Using exome sequencing, missense mutations in AFF4 were discovered in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS). The authors have named it CHOPS syndrome: C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia.
Consult the Pubmed abstract

Nat Genet. ; 47(4):338-44 ; April 2015
New congenital disorder of glycosylation caused by heterozygous mutations in COG2
The authors reported a patient showing severe acquired microcephaly, psychomotor retardation, seizures, liver dysfunction, hypocupremia, and hypoceruloplasminemia. Two heterozygous mutations were identified in COG2. These data strongly suggest that these compound heterozygous mutations are causative of congenital disorders of glycosylation.
Consult the Pubmed abstract

Clin Genet. ; 87(5):455-60 ; May 2015

New Genes

Sotos syndrome caused by mutations in APC2 and PTEN
Consult the Pubmed abstracts
To read more about "Sotos syndrome"

Cell Rep. ; [Epub ahead of print] ; March 2015
Mol Syndromol. ; 6(1):32-8 ; February 2015
Leigh syndrome due to compound heterozygous mutations of NARS2
Consult the Pubmed abstract
To read more about "Leigh syndrome"

PLoS Genet. ; 11(3):e1005097 ; March 2015
Zebra body myopathy is linked to a mutation in ACTA1
Consult the Pubmed abstract
To read more about "Zebra body myopathy"

Neuromuscul Disord ; 25(5):388-91 ; 2015 May
Isolated focal cortical dysplasia type II due to de novo brain somatic mutations in MTOR
Consult the Pubmed abstract
To read more about "Isolated focal cortical dysplasia type II"

Nat Med. ; 21(4):395-400 ; April 2015
Epileptic encephalopathy associated with de novo loss- or gain-of-function mutations in KCNA2 in six isolated patients
Consult the Pubmed abstract
To read more about "Familial focal epilepsy with variable foci"

Nat Genet. ; 47(4):393-9 ; April 2015
Amyotrophic lateral sclerosis: TBK1 as a risk gene
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Science ; 347(6229):1436-41 ; March 2015
Cleft lip with or without cleft palate: ADAMTS20 identified as a risk variant
Consult the Pubmed abstract
To read more about "Cleft lip with or without cleft palate"

PLoS Genet. ; 11(3):e1005059 ; March 2015
Bladder exstrophy: ISL1 as a susceptibility gene
Consult the Pubmed abstract
To read more about "Bladder exstrophy"

PLoS Genet. ; 11(3):e1005024 ; March 2015
Whole-exome sequencing of pre-screened multiplex consanguineous families allows proposing 33 candidate genes for several neurogenetic disorders
Consult the Pubmed abstract
Cell Rep. ; 10(2):148-61 ; January, 2015

Research in Action

Clinical Research
Sickle cell anemia: mitigated results with deferasirox for iron chelation in multi-transfused children
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Eur J Haematol. ; 94(4):336-42 ; April 2015
Myasthenia gravis: higher dose and longer prednisolone treatment do not ensure better outcome
Consult the Pubmed abstract
To read more about "Myasthenia gravis"

Muscle Nerve. ; 51(5):692-6 ; May 2015
Duchenne muscular dystrophy: upper extremity training with an arm ergometer is more effective compared to range-of-motion exercises alone
Consult the Pubmed abstract
To read more about "Duchenne muscular dystrophy"

Muscle Nerve. ; 51(5):697-705 ; May 2015
Acute myeloid leukemia: allo-stem cell transplantation provides better disease control than auto-stem cell transplantation, but shows higher toxicity
Consult the Pubmed abstract
To read more about "Acute myeloid leukemia"

Eur J Haematol. ; 94(5):449-55 ; March - April 2015
Primary central nervous system lymphoma: methotrexate-based chemotherapy followed by whole-brain radiotherapy does not increase survival compared to chemotherapy alone
Consult the Pubmed abstract
To read more about "Primary central nervous system lymphoma"

Neurology ; 84(12):1242-8 ; March 2015
Adrenocortical carcinoma: linsitinib does not increase overall survival
Consult the Pubmed abstract
To read more about "Adrenocortical carcinoma"

Lancet Oncol. ; 16(4):426-35 ; April 2015
Uterine or soft-tissue leiomyosarcoma: despite manageable toxic effects, doxorubicin plus trabectedin could be used as first-line treatment
Consult the Pubmed abstract
To read more about "Leiomyosarcoma"
To read more about "Leiomyosarcoma of the cervix uteri"
To read more about "Leiomyosarcoma of the corpus uteri"

Lancet Oncol. ; 16(4):457-64 ; April 2015
Advanced translocation-related sarcoma: trabectedin reduces the risk of disease progression and death
Consult the Pubmed abstract
Lancet Oncol. ; 16(4):406-16 ; April 2015
Mesothelioma: vorinostat given as second-line or third-line therapy does not improve overall survival
Consult the Pubmed abstract
To read more about "Pleural mesothelioma"

Lancet Oncol. ; 16(4):447-56 ; April 2015
Multiple myeloma: novel drug protocols increase the quality of the responses to treatment but do not increase tolerability of patients over 65 years
Consult the Pubmed abstract
To read more about "Multiple myeloma"

Eur J Haematol. ; 94(5):424-30 ; May 2015
Primary CD59 deficiency: phenotype extension
Consult the Pubmed abstract
To read more about "Primary CD59 deficiency"

Neurology ; 84(12):1220-4 ; March 2015
Medulloblastoma: hamartomatous skin lesions associated with SUFU mutations
Consult the Pubmed abstract
To read more about "Medulloblastoma"

Fam Cancer. ; 14(1):151-5 ; March 2015
Therapeutic Approaches

Down syndrome: NKCC1 inhibition by bumetanide restores synaptic plasticity and memory in a mouse model
Consult the Pubmed abstract
To read more about "Down syndrome"

Nat Med. ; 21(4):318-26 ; April 2015
Niemann-Pick disease type C: HPGCD improves liver status and prolongs survival in a mouse model
Consult the Pubmed abstract
To read more about "Niemann-Pick disease type C"

Stem Cells ; 33(4):1075-88 ; April 2015
The corrected cystic fibrosis induced pluripotent stem cells, when induced to differentiate in vitro, express the corrected CFTR gene
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Stem Cell Reports ; 4(4):569-77 ; April 2015
Cystic fibrosis: review on new insights about miRNAs
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Am J Pathol. ; 185(4):897-908 ; April 2015
Human muscle diseases: review on diagnostic and therapeutic potential of skeletal muscle microRNAs
Consult the abstract
Journal of Neuromuscular Diseases ; 2(1):1-11 ; 2015
Diagnostic Approaches

Threshold tracking transcranial magnetic stimulation technique reliably distinguishes amyotrophic lateral sclerosis from other diseases
Consult the Pubmed abstract
To read more about "Amyotrophic lateral sclerosis"

Lancet Neurol. ; 14(5):478-84 ; May 2015
Antisynthetase syndrome-associated myositis: the presence of myonuclear actin filament inclusions accurately identifies patients
Consult the Pubmed abstract
To read more about "Antisynthetase syndrome"

Neurology ; 84(13):1346-54 ; March 2015
Subacute-onset idiopathic inflammatory myopathy: combining MRI and muscle biopsy improves diagnostic accuracy
Consult the Pubmed abstract
To read more about "Polymyositis"
To read more about "Dermatomyositis"
To read more about "Autoimmune necrotizing myopathy"

Muscle Nerve. ; 51(2):253-8 ; February 2015
Thalassemia: serum ferritin as diagnostic and predictive marker
Consult the Pubmed abstract
To read more about "Beta-thalassemia major"
To read more about "Beta-thalassemia intermedia"

Eur J Haematol. ; 94(5):404-12 ; May 2015

Patient Management and Therapy
Hemophilia A: review on treatments and risks of inhibitor development
Consult the Pubmed abstract
To read more about "Hemophilia A"

Eur J Haematol. ; 94(4):284-9 ; April 2015
Sickle cell anemia: review on hematopoietic stem cell transplantation
Consult the Pubmed abstract
To read more about "Sickle cell anemia"

Eur J Haematol. ; 94(5):391-9 ; May 2015
Hereditary metabolic liver diseases: review on cell therapies
Consult the Pubmed abstract
Stem Cells ; 33(4):1055-62 ; April 2015
Junctional epidermolysis bullosa: review on therapy with induced pluripotent stem cells
Consult the Pubmed abstract
To read more about "Junctional epidermolysis bullosa"

Genome Med. ; 7(1):15 ; February 2015
Review on cellular strategies for retinal repair by photoreceptor replacement
Consult the Pubmed abstract
To read more about "Retinitis pigmentosa"
To read more about "Choroideremia"
To read more about "Leber congenital amaurosis"
To read more about "Stargardt disease"
To read more about "Usher syndrome"

Prog Retin Eye Res. ; 46:31-66 ; May 2015
Phenylketonuria: Cochrane review on sapropterin dihydrochloride for the treatment
Consult the Pubmed abstract
To read more about "Phenylketonuria"

Cochrane Database Syst Rev. ; 3:CD008005 ; March 2015
Muscular dystrophy: review on stem cell therapy
Consult the Pubmed abstract
Stem Cells Transl Med. ; 4(1):91-8 ; January, 2015
Multifocal motor neuropathy: Cochrane review on immunosuppressant and immunomoludatory treatments
Consult the Pubmed abstract
To read more about "Multifocal motor neuropathy"

Cochrane Database Syst Rev. ; 3:CD003217 ; March 2015
Chronic inflammatory demyelinating polyneuropathy: review on immunoglobulin therapy
Consult the Pubmed abstract
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Muscle Nerve. ; 51(5):657-61 ; May 2015
Chronic autoimmune neuropathies: review on immunoglobulin treatment
Consult the Pubmed abstract
To read more about "Multifocal motor neuropathy"
To read more about "Chronic acquired demyelinating polyneuropathy"
To read more about "Chronic inflammatory demyelinating polyneuropathy"

Muscle Nerve. ; 51(3):315-26 ; March 2015
Trigeminal neuralgia: review on treatments
Consult the abstract
To read more about "Trigeminal neuralgia"

Orphan Drugs: Research & Reviews ; (5):11-17 ; April 2015
Cystic fibrosis: Cochrane review on potentiators
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 3:CD009841 ; March 2015
Cystic fibrosis: Cochrane review on postural drainage
Consult the Pubmed abstract
To read more about "Cystic fibrosis"

Cochrane Database Syst Rev. ; 3:CD010297 ; March 2015
Mantle cell lymphoma: review on allogeneic stem cell transplantation
Consult the Pubmed abstract
To read more about "Mantle cell lymphoma"

Eur J Haematol. ; 94(4):290-7 ; April 2015
Glioblastoma: review on treatment
Consult the Pubmed abstract
To read more about "Glioblastoma"

Stem Cells ; 33(4):1042-6 ; April 2015
Inflammatory muscle diseases: review on diagnostic utility of auto-antibodies
Consult the abstract
To read more about "Polymyositis"
To read more about "Dermatomyositis"
To read more about "Autoimmune necrotizing myopathy"
To read more about "Inclusion body myositis"

Journal of Neuromuscular Diseases ; 2(1):13-25 ; 2015
Spinal neurofibromatosis: review of clinical and genetic features
Consult the Pubmed abstract
To read more about "Neurofibromatosis type 1"

Clin Genet. ; 87(5):401-10 ; May 2015
Spinal muscular atrophy: review on diagnosis and management
Consult the Pubmed abstract
Muscle Nerve. ; 51(2):157-67 ; February 2015
Polymyositis and dermatomyositis: a review
Consult the Pubmed abstract
To read more about "Polymyositis"
To read more about "Dermatomyositis"

Muscle Nerve. ; 51(5):638-56 ; May 2015
Paraproteinemic neuropathies: a review
Consult the Pubmed abstract
Muscle Nerve. ; 51(1):1-13 ; January, 2015
Amyotrophic lateral sclerosis: review on clinical perspectives
Consult the abstract
To read more about "Amyotrophic lateral sclerosis"

Orphan Drugs : Research & Reviews ; (5):19-31 ; April 2015
Progressive hemifacial atrophy: a review
Consult the Pubmed abstract
To read more about "Progressive hemifacial atrophy"

Orphanet J Rare Dis. ; 10(1):39 ; April 2015
Myelodysplastic syndromes: a review
Consult the Pubmed abstract
Eur J Haematol. ; 94(5):379-90 ; May 2015
Cogan’s syndrome and other ocular vasculitides: a review
Consult the Pubmed abstract
To read more about "Cogan syndrome"

Curr Rheumatol Rep ; 17(4):499 ; 2015 Apr
Idiopathic giant cell myocarditis: a review
Consult the Pubmed abstract
To read more about "Idiopathic giant cell myocarditis"

Curr Heart Fail Rep. ; 12(3):263-8 ; June 2015
Eisenmenger syndrome: a review
Consult the article
To read more about "Eisenmenger syndrome"

The Journal of Rare Disorders ; 3(1): 1-5 ; March 2015
Disorders of sex development: review on genetic diagnosis and management
Consult the abstract
Advances in Genomics and Genetics ; (5):165-177 ; April 2015
Paediatric antiphospholipid syndrome: a review
Consult the Pubmed abstract
To read more about "Neonatal antiphospholipid syndrome"

Curr Rheumatol Rep. ; 17(4):504 ; April 2015
IgG4-related disease: a review
Consult the Pubmed abstract
Lancet ; 385(9976):1460-71 ; April 2015
One new GeneReviews published
GeneReviews are expert-authored, peer-reviewed disease descriptions ("chapters") presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. One new GeneReviews has been published for:
G6PC3 Deficiency


Orphan Drugs
Regulatory News
Rare sleepwake disorder gets its first therapy recommended by the EMA
The European Medicines Agency (EMA) has recommended granting a marketing authorisation for Hetlioz (tasimelteon) to treat non24hour sleepwake disorder occurring almost exclusively in people who are completely blind. How the body adjusts to the 24 hour clock is closely linked to the pattern of daylight, and so people who do not perceive light pattern that is closer to a 25hour clock hence disrupting the sleep-wake schedule.The hormone melatonin plays a key role in coordinating the body’s sleep cycle by acting on receptors in specific areas of the brain. Melatonin is produced by the pineal gland in the brain during the hours of darkness. Hetlioz is a melatonin receptor agonist which attaches to the receptors that melatonin normally attaches to therefore promotes sleep and regulating sleep patterns. The opinion adopted by the Committee for Medicinal Products for Human Use (CHMP) at its April 2015 meeting which will now be sent to the European Commission for the adoption of a decision on EU wide marketing authorisation.
Go to the EMA website for further information

Political and Scientific News
Accepting risk in the acceleration of drug development for rare cancers
An article published in Lancet Oncology describes the burden of rare cancers and the challenges that is faced while developing medications for rare cancers. The author describes that the need for creating medications for rare cancers is immediate due to the disproportionate fraction of its total burden which is complicated by the fact that increasingly there are smaller numbers of patients with each cancer subtype, requiring cooperation and collaboration to complete multicentre trials that advance knowledge and patient care. The authors believe that the progress towards understanding the molecular mechanisms of rare cancers have led to significant advances in the development of medicinal products. However, the authors state that the "drug development strategies and the availability of new agents for rare cancers are at risk of stalling owing to the ever-increasing complexity and costs of clinical trials."

To combat this, the authors propose a "greater degree of risk sharing (among stakeholders) to enable the use of new methods with confidence, and to keep pace with scientific advancement." According to the authors, although the policy makers, regulators, and insurers are increasingly risk-averse when it comes to health care and drug development, they should be ready to accept increased levels of risk for higher levels of innovation in rare cancer treatment.
Read the open access article

The TREAT-NMD advisory committee for therapeutics and its role in bringing orphan drugs to the market

TREAT-NMD Advisory Committee for Therapeutics (TACT) was established to provide independent and objective guidance on the preclinical and development pathway of potential therapies (whether novel or repurposed) for NMD. A reviews published in the Orphanet Journal of Rare Diseases presents the experiences of TACT which has provided a unique resource of recognised experts from multiple disciplines to help the sponsor to position the candidate compound along a realistic and well-informed plan to clinical trials, and eventual registration.

The article details the stringent membership procedures for TACT, which is currently comprised of 67 international experts in various areas of drug development, representing 11 countries. The article states that TACT has reviewed 29 program applications in several rare neuromuscular diseases from industry and academia, which included novel and repurposed medications in preclinical and clinical stage applications. Out of these applications TACT has helped garner Orphan drug designation from European Medicines Agency and from Food and Drug Administration for 3 products each. The authors also describe the recurrent themes of these applications over the past 5 years and believe that their experience can be extrapolated to bring medications for other groups of rare diseases to the market.
Read the open access article

Study demonstrates extraordinary flexibility by the FDA towards approving orphan drugs

An article published in Therapeutic Innovation & Regulatory Science follows up on the analysis conducted by Frank Sasinowski that reviewed the evidence of effectiveness required to secure FDA approval for orphan drugs from 1983 to 2010. This study determines how frequently FDA has required marketing applications of drugs for rare diseases to provide the conventional level of proof of effectiveness that is ordinarily expected for most drugs for prevalent diseases from 2010 to 2014. This study relies on FDA’s publicly available documents for drugs approved by FDA during the 4 year period and each approval was analysed and classified. The authors demonstrate that just over two-thirds of all non cancer orphan drugs did not require the orphan drug applications to provide the conventional level of proof of effectiveness that is ordinarily expected for drugs for prevalent diseases, consistent with the analysis of Sasinowski. The findings support that FDA has demonstrated flexibility in its review of certain applications for orphan drugs and reinforce the need for FDA and drug companies to better understand and discuss the various types of flexibility. In summary, this article classifies the 27 orphan drug approvals into 1 of 3 categories based on an analysis of the quantum of effectiveness evidence:
1. ‘‘conventional’’ quantum of evidence,
2. Evidence consistent with a formal FDA system for exercising discretion or ‘‘administrative flexibility,’’ or
3. Evidence that is consistent with a ‘‘case-by-case flexibility.’’
Access the article

Sustainability of the orphan medicinal drug model in Europe: an industry perspective
A paper published in the Orphanet Journal of Rare Diseases provides the perspective of a biopharmaceutical company on the debate of the orphan medicinal product (OMP) model by “proposing a set of principles to improve the consistency, effectiveness and sustainability of OMP value assessment mechanisms in Europe, while maintaining flexibility and innovation in decision making between countries”. The authors propose ten principles to be considered when undertaking reforms to improve access of OMPs, from the perspective of an OMP manufacturer. They put forward several practical recommendations that among others include continued prioritisation of rare diseases by policymakers and greater collaboration among stakeholders. The authors consider OMP Regulation to be an example of successful health policy as it has contributed to boosting research, development and marketing of orphan medicinal products in Europe after decades in which no new treatments were approved.
Read the Open Access article



The Ataxia of Charlevoix-Saguenay Foundation
The Ataxia of Charlevoix-Saguenay Foundation offers annual research fellowships that will lead to a treatment for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). A maximum of $100,000 could be awarded for a period of one year and could be renewed for a second year by way of a new application. Application Deadline: May 22, 2015
For further information

AFM Telethon: Call for proposals
Several call for proposals are being made available by AFM Telethon. They have published a call for proposals for Spinal Muscular Atrophy and Collagen VI Call for Projects.
For further information

Care-for-rare science award 2015
The Care-for-Rare Foundation awards two prizes a year, in order to encourage young researchers to continue their research into rare diseases. The Dr. Holger Müller Prize, endowed with €5000, is awarded to individual researchers or research groups who have published an outstanding contribution to the study of rare diseases in the previous year.
For further information


Partnersearch, Job Opportunities
PhD fellowships from Kindness for Kids foundation
In collaboration with EuroBioBank and RD-Connect this PhD fund a PhD project that uses an in vitro experiment to help develop a new treatment in the area of rare paediatric diseases. For the project to be eligible, patient biomaterials from EuroBioBank and/or RD-Connect should be used in the study. The PhD project should develop or test a new treatment, identify therapeutic targets or employ a screening platform in the area of rare paediatric diseases using in vitro experiments. The experimentations of the PhD project must be to a major extent based on samples from a biobank associated with EuroBioBank and/or RD-Connect. Further collaborations with these two initiatives are strongly encouraged. The application has to be emailed in English as pdf attachments by June 15th 2015 to Dr. Julia Barske.

Courses & Educational Initiatives

Promoting high quality scientific research in paediatric medicines
Date: 28 May 2015
Venue: London, United Kingdom

EnprEMA will hold its 7th annual workshop on 28 May 2015 at the EMA. The aim of the annual workshop is to promote the conduct of high quality paediatric clinical studies.
Visit the EURORDIS website for more information.

Annual workshop of the European network of paediatric research at the European Medicines Agency
Date: 28-29 May, 2015
Venue: London, United Kingdom

Day one of the workshop, 28 May, is an open meeting to all stakeholders: patient/parent organisations, network representatives, pharmaceutical industry staff responsible for paediatric studies and regulators. Day two, 29 May is dedicated to members of EnprEMA and its Coordinating Group. Registration is open until 15 May 2015 using the registration form.
Visit the EURORDIS website for more information.

Date: 1-5 June, 2015
Venue: Barcelona, Spain

ExPRESS 2015 is the name of the exciting new programme for the upcoming annual EURORDIS Summer School. ExPRESS, which stands for Expert Patients and Researchers EURORDIS Summer School, will gather for the first time both researchers and patient representatives who will be trained together. The trainers are from patient organisations, research institutes and the European Medicines Agency. The four-day training programme develops the capacity of patients' advocates to act as experts in regulatory processes and further their implication in medicines development and advocacy actions both at the national and European levels.
For further information contact Nancy Hamilton
Visit the EURORDIS website for more information.

2015 1st PHENO Workshop
Date: 15 – 16 June 2015
Venue: Paris, France

The main goal of our workshop is to promote the use of behavioral approaches in translational research projects. Studying behavior in vivo is fundamental to characterize new disease models and evaluate drug efficacy at a functional level, leading to improvement in diagnosis and treatment.
Visit the EURORDIS website for more information.

2015 Genodermatoses Network Training Session
Date: 19 June 2015
Venue: Lasi, Romania

This training session is aimed at Health care providers including physicians -such as dermatologists, pediatricians, neonatologists- researchers, students, residents and others who can work together in the field of genodermatology. Topics will include discussions around ectodermal dysplasia, epidermolyisis bullosa, ichtyosis, neurofibromatosis, netherthon syndrome, nevus comedonicus, porphyria, tuberous sclerosis.
Visit the Genodermatoses website for more information.

Genetics of intellectual disability: an update
Date: 25 – 27 June 2015
Venue: Braga, Portugal

The aim of this course is to provide an update on the genetic basis of intellectual disability (ID). ID is a prominent feature in a large and heterogeneous set of hereditary conditions. This course is planned for a target audience of Pediatricians, Pediatric Neurologists, Pediatric Psychiatrists, Medical Geneticists, Psychologists, Family doctors, and graduate students in the fields of Neurosciences and Genetics. Other health professionals are also welcome. The course idiom will be English.
Visit the EURORDIS website for more information.

3rd radiz Rare Diseases Summer School
Date: 1-3 July, 2015
Venue: Zurich, Switzerland

The 3rd radiz Rare Diseases Summer School will focus on a wide variety of subjects in the arena of rare diseases, from disease mechanisms and animal models, to improving diagnoses, to novel therapeutics. There will be lectures and workshops on drug development, model organisms, how to choose clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical considerations, as well as what rare diseases may tell us about common diseases. The summer school will contain lectures by national and international rare disease experts, workshops, and poster presentations by participants.
Visit the EURORDIS website for more information.

Workshop on haemophilia registries
Date: 1 -2 July 2015
Venue: London, United Kingdom

The aim of this workshop will be to identify strengths and weaknesses of registries from the perspective of providing safety and efficacy data on products, and to consider approaches/initiatives to strengthen this.
Visit the EURORDIS website for more information.

The 2nd Biennial Australian Rare Lung Disease Short Course
Date: 16-17 October, 2015
Venue: Sydney, Australia

The joint venture between Lung Foundation Australia and the Thoracic Society of Australia and New Zealand (TSANZ) will provide updates on the latest in research, diagnosis, therapy and care for Interstitial Lung Disease. The program boasts an exceptional selection of Australian specialists as well as keynote presentations from international speaker, Professor Kevin Flaherty (USA).
For further information or to register please visit: www.lungfoundation.com.au.

Courses offered by Recordati Rare Diseases Foundation
The Recordati Rare Diseases Foundation is offering five courses planned for next year. For further information, please contact Cecilia Kellquist, Coordinator and member of the board, ckellquist@rrd-foundation.org/www.rrd-foundation.org.
The changing spectrum of IMD: surviving longer and growing old with IMDs
Date: 21-23 May, 2015
Venue: Washington DC, US

Children’s Hospital of Pittsburgh, the Division of Medical Genetics and Children’s National, Department of Genetics and Metabolism.
Registration deadline: 8th April

Classification and diagnostic approach of IMD affecting the synthesis and remodelling of complex lipids
Date: 24-26 June 2015
Venue: Paris, France

in partnership with the Pitié-Salpêtrière Hospital Pierre et Marie Curie University Paris VI; the Academic Medical Center, University of Amsterdam and the University Children’s Hospital of Zurich.
Registration deadline: 13th May

Genetic congenital heart diseases
Date: 7-9 October 2015
Venue: Rome, Italy

in partnership with Bambino Gesù Children’s Hospital, Rome
Registration deadline: 27th August

Neurotransmitter focus course
Date: 9-10 November 2015
Venue: Venice, Italy

in partnership with University Hospital for Child and Adolescent Medicine of Heidelberg and University Hospital of Padua. Registration deadline: 26th September


What's on Where?

6th International conferences on ectodermal dysplasia
Date: 27-30 May, 2015
Venue: Oslo, Norway

The conference will attract medical and dental clinicians and researchers from many countries in addition to patient organisation leaders from all over the world.
For further information

Trisomy 21 Research Society (T21RS) International Conference
Date: 4-6 June, 2015
Venue: Paris, France

T21RS promotes research on Down syndrome and stimulates collaboration between researchers worldwide. The first edition of the T21RS International Conference will be held at the site of the Hôpital de la Pitié-Salpêtrière in Paris. More details will be announced in due course.
For further information

The European Human Genetics Conference 2015
Date: 6-9 June, 2015
Venue: Scotland, United Kingdom

The European Human Genetics Conference is a forum for all workers in human and medical genetics to review advances and develop research collaborations.
For further information

34th Annual European Malignant Hyperthermia Group (EMHG) Meeting
Date: 11-13 June, 2015
Venue: Lille, France

The topics will cover all the fields of interest in malignant hyperthermia, such as invitrocontracturetesting, genetics, clinical and experimental issues, updates and forthcoming projects. The scientific program of the European Malignant Hyperthermia Group (EMHG) will be on state-of-the-art presentations in our field as well as new insights into basic science, clinical research and therapeutic interventions.
For further information

22nd International Meeting of the Pediatric Colorectal Club 2015
Date: 13-15 June, 2015
Venue: Milan, Italy

This meeting aims to provide up to date clinical and scientific information on all aspects of paediatric colorectal disease to practicing paediatric surgeons, nurses and parents’ Associations.
For further information

International Myotonic Dystrophy Consortium Meeting (IDMC)
Date: 8-12 June, 2015
Venue: Paris, France

This consortium will bring together not only scientists and clinicians but also family associations and patients.
For further information

3rd ELA Scientific Congress
Date: 24-26 June, 2015
Venue: Paris, France

Speakers with expertise in leukodystrophies, myelin biology, neuroimaging, stem cell research and gene therapy will participate to the congress to share and discuss recent advances and cutting-edge science in these fields with the ultimate goal to fight and eventually find a cure for the disabling leukodystrophies and myelin diseases.
For further information

Tourette Syndrome Congress 2015
Date: 24-26 June, 2015
Venue: London, UK

The 1st World Congress on Tourette Syndrome and Tic Disorders is designed for linicians, researchers , post-doctoral fellows, medical residents and allied healthcare professionslas with an interest in current research, diagnosis and treatment of these and related conditions.
For further information

7th International Conference on Children’s Bone Health
Date: 27-30 June, 2015
Venue: Salzburg, Austria

The International Conference on Children’s Bone Health (ICCBH) meetings provide an international forum for the presentation and discussion of current basic and clinical science in the field of bone metabolism and bone mass in children, adolescents and young adults.
The call for abstracts opens in September 2014.
Abstract deadline: 6 February 2015.
For further information

Orphan Drugs & Rare Diseases Global Congress
Date: 29 June- 1 July, 2015
Venue: London, United Kingdom

This conference provides a unique platform for an intimate & interactive knowledge sharing and convergence of top tier government, pharmaceuticals, biopharmaceuticals, hospitals, non-profit organisations, orphan drugs developers as well as regional and local manufacturers to discuss the driving macroeconomic factors, policies and issues that will steer the development of orphan drugs globally.
For further information

The First Russian Congenital Aniridia Conference
Date: 3-4 July, 2015
Venue: Moscow, Russia

The conference will aim at sharing knowledge and experience about Congenital Aniridia by increasing the dialogue between patients and doctors about the problems of congenital aniridia.
For further information

10th European Cytogenetics Conference
Date: 4-7 July, 2015
Venue: Strasbourg, France

The 10th European Cytogenetics Conference allows all cytogeneticists from Europe and further afield to come together to hear about and discuss the most exciting developments ranging from applications in prenatal or cancer diagnosis to chromosome biology in epigenetics and evolution.
For further information

4th Congress on Mitochondrial Medicine
Date: 9-10 July, 2015
Venue: Salzburg, Austria

The meeting addresses the importance of mitochondrial pathology in neurology, pediatrics and beyond. An overview on the newest research developments and important clinical aspects will be provided. Deadline for the submission of scientific abstracts is May 15th and for early registration is June 1st.
For further information

10th International Conference: One Carbon Metabolism, vitamins B and Homocysteine
Date: 7-11 July, 2015
Venue: Nancy, France

The conference will deal with a very interdisciplinary program joining leading scientists from biochemical, experimental and clinical medical area. It will cover the most advanced research on One Carbon Metabolism, Homocysteine and related coenzymes and vitamins, including folate, vitamin B12 (cobalamins), vitamin B6 (pyridoxine) and choline in the fields of biochemistry, metabolism, nutrition, epidemiology and experimental and clinical medicine.
For further information

4th International RASopathies Symposium
Date: 17-19 July, 2015
Venue: Washington, US

This conference will bring together caregivers, clinicians, patients, researchers and pharmas with an aim to expedite treatments and cures for the RASopathies.
For further information

Glycoproteinoses: Fourth International Conference on Advances in Pathogenesis and Therapy
Date: 23-26 July, 2015
Venue: Missouri, US

The Fourth International Conference on the Glycoproteinoses will bring together leading investigators from around the world to discuss the latest advances in understanding the pathophysiology of these rare disorders and the status of the development of new therapies.
For further information

International VHL Symposium for young adults
Date: 30 July – 3 August, 2015
Venue: Utrecht, The Netherlands

The aim of the event is to create the opportunity to network and share global experiences with VHL. Another important part of the programme is designed to increase age-specific VHL-related knowledge.
For further information

SSIEM Official Satellite Symposia Second World Conference on Congenital Disorders of Glycosylation
Date: 28-30 July, 2015
Venue: Lyon, France

This conference aims to raise awareness about Congenital Disorders of Glycosylation (CDG) around the world and to foster an exceptional collaborative model involving patients, family members, researchers and physicians.
For further information

SSIEM Annual symposium
Date: 1-4 September, 2015
Venue: Lyon, France

For further information

26th European Dysmorphology Meeting
Date: 9-10 September, 2015
Venue: Le Bischenberg, France

The principal aim of this meeting has been to bring young clinical geneticists and trained dysmorphologists together to share their professional experiences and present their clinical challenges. EuroDysmorpho is open to any presentation in the field of human development.
For further information

DEBRA International Conference & EBCLINET
Date: 24-26 September, 2015
Venue: London, United Kingdom

The 3rd conference of EB-CLINET is open to all network partners as well as other interested people who would like to gain a better understanding of the condition, the network and/or contribute to improving the medical care or the quality of life for those affected by EB.
For further information

Tyrosinemia 2015
Date: 24-26 September, 2015
Venue: Quebec, Canada

The Quebec parent association (GAETQ) is organizing an international conference on Tyrosinemia. The objective is to share and update our knowledge regarding this disease and its impacts on the medical world. Tyrosinemia was identified fifty years ago and used to greatly diminish the life expectancy of children affected. Now the disease is well controlled, thanks to NTBC.
For further information

The PANDAS 2015
Date: 26 September, 2015
Venue: Lake Como, Italy

Presentations of the latest scientific advances in the diagnosis and treament of PANS/PANDAS shall include topics touching immunology, rheumatology, neurology, child psychiatry, psychology and more.
For further information

8 International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases
Date: 30 September – 3 October, 2015
Venue: Dresden, Germany

This meeting will offer numerous opportunities to convene with experts on FMF and other auto-inflammatory diseases. This meeting hopes to welcome more than 400 participants from all over the world to discuss the latest scientific and clinical developments, including new treatment options.
For further information

Annual joint DIA/EFGCP/EMA Better Medicines for Children Conference
Date: 1-2 October, 2015
Venue: London, UK

This year’s DIA/EFGCP/EMA annual paediatric conference will focus on ways to overcome challenges faced during drug development for the paediatric population, such as through collaboration, extrapolation, modelling & simulation and adaptive pathways.
For further information

47th Congress of the International Society of Paediatric Oncology
Date: 8 – 11 October, 2015
Venue: Cape Town, South Africa

This stimulating scientific programme will facilitate the exchange of ideas and information in paediatric oncology.
For further information

The AANEM Annual Meeting
Date: 28 -31 October, 2015
Venue: Hawaii, United States

The AANEM Annual Meeting is the premier educational event for those involved in neuromuscular (NM) and electrodiagnostic (EDX) medicine. Earn over 30 continuing education credits through interactive workshops, lively discussions, and engaging sessions.
For further information

First European Congress on Hereditary ATTR amyloidosis ECATTR
Date: 2-3 November, 2015
Venue: Paris, France

The European Congress for HATTR will allow the meeting of the specialists of all European countries and the sharing of experience. The effort will be to further improve the early diagnosis of sporadic cases and genetic carriers, to review anti-amyloid treatments and clinical trials, to improve genetic counselling.
For further information

2nd International Primary Immunodeficiencies Congress (IPIC)
Date: 5-6 November, 2015
Venue: Budapest, Hungary

The International Patient Organisation for Primary Immunodeficiencies (IPOPI) announces the Second International Primary Immunodeficiencies Congress (IPIC). This event will build on the successful outcomes of the first IPIC, attended by 400 participants. The congress will consist of a two-day programme and is open to all stakeholders with an interest in clinical management of primary immunodeficiencies (PIDs).
For further information

International Conference on Sanfilippo Syndrome and related Lysosmal Storage Diseases
Date: 26 – 28 November, 2015
Venue: Geneva, Switzerland

The aim of this second unique forum is to bring together some 200 participants from around the world, including scientists and clinicians, start-up leaders, and families of patients groups, to inform and strengthen exchange and cooperation.
For further information

MYOLOGY 2016 Fifth International Congress of Myology
Date: 14-18 March, 2015
Venue: Lyon, France

Held for the first time in 2000, MYOLOGY has become a unique opportunity for international experts in the field to exchange and confront the emerging therapeutic approaches, but also to share the first clinical results. The science and medicine of muscle have reached a new milestone. In Myology 2016, no doubt there will be new results, new breakthroughs to share all together.
For further information

13th International Congress of Human Genetics (ICHG) 2016
Date: 3-7 April, 2016
Venue: Kyoto, Japan

Hosted by the East-Asian Union of Human Genetic Societies (EAUHGS) and the Japan Society of Human Genetics, the 13th ICHG will focus on progress in genome analysis technologies and big data in order to explore disease mechanisms and treatment opportunities.
Registrations open in 2015.
For further information

ESID European Society for Immunodeficiencies: Biennial meeting
Date: 21-24 September, 2016
Venue: Barcelona, Spain

Sessions at this meeting will be devoted to understanding primary immunodeficiencies and their clinical aspects.
For further information


Commercial events

10th annual World Stem Cells & Regenerative Medicine Congress
Date: 20-22 May, 2015
Venue: Maryland, USA

Discover and understand how industry leaders view the clinical and commercial futures of stem cells and regenerative medicine and the effect it will have on business.
For further information

Pan-Omics Summit
Date: 21-22 May, 2015
Venue: Massachusetts , US

Representatives from big pharma, academic institutions, and government research labs will present data on advances in new technology and case studies on therapeutic targets, molecular diagnostics, and integration of complex data.
For further information

2nd Metabolomics - Advances & Applications in Human Disease Conference
Date: May 21-22, 2015
Venue: Massachusetts, US

This event will present new research and offers networking opportunities with the researchers and scientists who are working on developing clinical assays, connecting the metabolome and the genome, and establishing common quality standards for experimental data.
For further information

World Orphan Drug Congress Asia 2015
Date: 3-4 June, 2015
Venue: Singapore

This event will bring together specialised biotechs/pharmas, government, payers, investors & patient groups in one platform, this event offers a unique opportunity to increase brand visibility amongst the rare disease industry in Asia.
For further information

Orphan Drugs Access & Economics Masterclass
Date: 9 - 10 June, 2015
Venue: Berlin, Germany

You will hear about EU regulation, programmes and mechanisms, adaptive licensing, methods for economic evaluation, alternative ways to raise funds and finance orphan drugs, pricing and reimbursement models.
For further information

Orphan Drugs Summit 2015
Date: 17-18 September, 2015
Venue: Copenhagen, Denmark

This conference will bring together different groups of stakeholders on specifically selected topics to help them build relationships and reach their goals.


OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE ( RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Kate Bushby, Ana Rath
Editor: Divya Unni
Editors for Scientific Content: Sophie Höhn
Contact Us
Editorial Board: Valentina Bottarelli, Victoria Hedley, Yann Le Cam, Stephen Lynn, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Ségolène Aymé, Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Adam Heathfield, Alastair Kent, Dominique Péton-Klein, Milan Macek, Till Voigtländer

Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H'mida (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

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